FRMD7,FRMD7蛋白抗体

产品编号HZ-8239R
英文名称FRMD7
中文名称FRMD7蛋白抗体
别 名FERM domain-containing protein 7; FRMD7; FRMD7_HUMAN.
说 明 书0.1ml 0.2ml
研究领域细胞生物 免疫学 神经生物学
抗体来源Rabbit
克隆类型Polyclonal
交叉反应 Human, Mouse, Rat, Dog, Pig, Cow, Horse,
FRMD7,FRMD7蛋白抗体产品应用ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复）
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量82kDa
性 状Lyophilized or Liquid
浓 度1mg/1ml
免 疫 原KLH conjugated synthetic peptide derived from human FRMD7
亚 型IgG
纯化方法affinity purified by Protein A
储 存 液0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
FRMD7,FRMD7蛋白抗体PubMedPubMed
产品介绍background:
Mutations in this gene are associated with X-linked congenital nystagmus. [provided by RefSeq, Dec 2008]

Function:
Plays a role in neurite development (By similarity). May play a specific role in the control of eye movement and gaze stability.

Subcellular Location:
Cell projection. Cell projection, growth cone. Note=In undifferentiated neurons, located in the actin-rich regions of the cell body. In differentiated neurons, located in the actin-rich regions of the cell body and primary neurite processes but is almost absent from secondary extensions arising from the primary neurite. Also found at the actin-rich distal end of growth cones.

Tissue Specificity:
Expressed in liver, kidney, pancreas and at low levels in brain and heart. Expressed in embryonic brain and developing neural retina.

DISEASE:
Defects in FRMD7 are the cause of nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]. NYS1 is a condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding.

FRMD7,FRMD7蛋白抗体Similarity:
Contains 1 FERM domain.

Gene ID:
90167

Database links:
Entrez Gene: 90167 Human
Omim: 300628 Human
SwissProt: Q6ZUT3 Human
Unigene: 170776 Human

Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.